Developmental Genetics & Birth Defects

The overall objective of my program of research is to use a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families.

Characterization of the stem cell state and its control by comparative global gene expression and proteomics analyses.

Mendelian disorders of body weight regulation and their relevance to common obesity and metabolic syndrome. Transgenic/knockout mice with perturbations of energy intake and energy expenditure. Weaver syndrome – mutation detection and new therapies. Clinical uses of next-generation sequencing for rare versions of common disease. Personalized Genomics.

Neurological mutant mice are used as entrees into studying the genetics, cell biology and development of genes that are critical to nervous system development.

Mammalian development, Transcriptional regulation and epigenetics, Hepatocyte differentiation, Heart valve formation, Signal transduction, Transgenic/knockout mice, Whole genome profiling

Neurogenetics, Huntington disease and other triplet repeat disorders, transgenic/knockout mice, mouse models of human neurodegenerative disease, experimental therapeutics.

Role of imprinted genes in mammalian development. Epigenetics of embryonic stem cells and germ cell lineage. Gene targeting.

Discovery of monogenic causes of human developmental or metabolic disorders; natural history of monogenic disorders; optimal management of mitochondrial disorders.

iTARGET-Autism research is subgrouping “The Autisms” via whole phenome, genome, metabolome, microbiome and proteome discoveries in a precision medicine focus on autism cause, not only its symptoms.

Chromosomal etiology of intellectual disability/autism and cancer, Molecular cytogenetics, Identification of subtle chromosomal abnormalities using whole genome arrays.

Genetics and epigenetics related to fetal development and obstetrical complications of pregnancy such as fetal growth restriction, preterm birth, and birth defects. We use genomic and bioinformatic techniques/ tools to understand pathological processes related to placenta that affect the fetus and newborn.

Gene-based therapies for diseases of the brain and eye, cell-type specific MiniPomoters for rAAV delivery of gene augmentation and genome editing (CRISPR/cas9) therapies to cure mouse models of the human disease.

We study how transcriptional regulation affects metabolism and stress responses in C. elegans (worm), mice, and mammalian cells. Our goal is to identify genes and mechanisms that can be targeted in diseases such as cancers, diabetes, and neurodegenerative disorders, all of which have links to dysreguated stress response and metabolism. Our work is highly collaborative and uses state of the art genetic, genomic, molecular and computational biology approaches.

 

 

Melanoma, Mouse models, Developmental Genetics.

We are a stem cell bioengineering lab that develops robust technologies to control propagation and fate of stem cells and their derivatives, primarily focusing on blood differentiation from pluripotent stem cells.